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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 18975

FusionGeneSummary for KLF12_UCHL3

check button Fusion gene summary
Fusion gene informationFusion gene name: KLF12_UCHL3
Fusion gene ID: 18975
HgeneTgene
Gene symbol

KLF12

UCHL3

Gene ID

11278

7347

Gene nameKruppel like factor 12ubiquitin C-terminal hydrolase L3
SynonymsAP-2rep|AP2REP|HSPC122UCH-L3
Cytomap

13q22.1

13q22.2

Type of geneprotein-codingprotein-coding
DescriptionKrueppel-like factor 12AP-2 repressorAP-2rep transcription factorKLF12 zinc finger transcriptional repressortranscriptional repressor AP-2repubiquitin carboxyl-terminal hydrolase isozyme L3testicular tissue protein Li 221ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)ubiquitin thioesterase L3ubiquitin thiolesterase
Modification date2018052320180523
UniProtAcc

Q9Y4X4

P15374

Ensembl transtripts involved in fusion geneENST00000377669, ENST00000377666, 
ENST00000472022, 		ENST00000377595, 
ENST00000606347, 
Fusion gene scores* DoF score5 X 4 X 3=605 X 3 X 5=75
# samples 75
** MAII scorelog2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KLF12 [Title/Abstract] AND UCHL3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneKLF12

GO:0000122

negative regulation of transcription by RNA polymerase II

16615998

TgeneUCHL3

GO:0016579

protein deubiquitination

9521656

TgeneUCHL3

GO:0030163

protein catabolic process

21762696


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSARCTCGA-SI-AA8C-01AKLF12chr13

74518118

-UCHL3chr13

76134889

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000377669ENST00000377595KLF12chr13

74518118

-UCHL3chr13

76134889

+
5CDS-intronENST00000377669ENST00000606347KLF12chr13

74518118

-UCHL3chr13

76134889

+
In-frameENST00000377666ENST00000377595KLF12chr13

74518118

-UCHL3chr13

76134889

+
5CDS-intronENST00000377666ENST00000606347KLF12chr13

74518118

-UCHL3chr13

76134889

+
5UTR-3CDSENST00000472022ENST00000377595KLF12chr13

74518118

-UCHL3chr13

76134889

+
5UTR-intronENST00000472022ENST00000606347KLF12chr13

74518118

-UCHL3chr13

76134889

+

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FusionProtFeatures for KLF12_UCHL3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLF12

Q9Y4X4

UCHL3

P15374

Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alphagene promoter. Deubiquitinating enzyme (DUB) that controls levels ofcellular ubiquitin through processing of ubiquitin precursors andubiquitinated proteins. Thiol protease that recognizes andhydrolyzes a peptide bond at the C-terminal glycine of eitherubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys atposition P3", and exhibits a preference towards 'Lys-48'-linkedubiquitin chains. Deubiquitinates ENAC in apical compartments,thereby regulating apical membrane recycling. Indirectly increasesthe phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. Maybe involved in working memory. Can hydrolyze UBB(+1), a mutatedform of ubiquitin which is not effectively degraded by theproteasome and is associated with neurogenerative disorders.{ECO:0000269|PubMed:19154770, ECO:0000269|PubMed:21762696,ECO:0000269|PubMed:22689415, ECO:0000269|PubMed:2530630,ECO:0000269|PubMed:9790970}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKLF12chr13:74518118chr13:76134889ENST00000377666-38317_34141403Zinc fingerC2H2-type 1
HgeneKLF12chr13:74518118chr13:76134889ENST00000377666-38347_37141403Zinc fingerC2H2-type 2
HgeneKLF12chr13:74518118chr13:76134889ENST00000377666-38377_39941403Zinc fingerC2H2-type 3
HgeneKLF12chr13:74518118chr13:76134889ENST00000377669-27317_34141403Zinc fingerC2H2-type 1
HgeneKLF12chr13:74518118chr13:76134889ENST00000377669-27347_37141403Zinc fingerC2H2-type 2
HgeneKLF12chr13:74518118chr13:76134889ENST00000377669-27377_39941403Zinc fingerC2H2-type 3


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FusionGeneSequence for KLF12_UCHL3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_KLF12_ENST00000377669_chr13_74518118_-_UCHL3_ENST00000377595_chr13_76134889_+_254aa
MNIHMKRKTIKNINTFENRMLMLDGMPAVRVKTELLESEQGFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLFPITEKYEVFRT
EEEEKIKSQGQDVTSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQT

>In-frame_KLF12_ENST00000377666_chr13_74518118_-_UCHL3_ENST00000377595_chr13_76134889_+_254aa
MNIHMKRKTIKNINTFENRMLMLDGMPAVRVKTELLESEQGFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLFPITEKYEVFRT
EEEEKIKSQGQDVTSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQT


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_KLF12_ENST00000377669_chr13_74518118_-_UCHL3_ENST00000377595_chr13_76134889_+_762nt
ATGAATATCCATATGAAGAGAAAAACAATAAAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGA
GTCAAAACAGAGCTTTTGGAATCTGAACAAGGGTTTCTTAAACAATTAGGTCTACATCCTAACTGGCAATTCGTTGATGTATATGGAATG
GATCCTGAACTCCTTAGCATGGTACCAAGACCAGTCTGTGCAGTCTTACTTCTCTTTCCTATTACAGAAAAGTATGAAGTATTCAGAACA
GAAGAGGAAGAAAAAATAAAATCTCAGGGACAAGATGTTACATCATCAGTATATTTCATGAAGCAAACAATCAGCAATGCCTGTGGAACA
ATTGGACTGATTCATGCTATTGCAAACAATAAAGACAAGATGCACTTTGAATCTGGATCAACCTTGAAAAAATTCCTGGAGGAATCTGTG
TCAATGAGCCCTGAAGAACGAGCCAGATACCTGGAGAACTATGATGCCATCCGAGTTACTCATGAGACCAGTGCCCATGAAGGTCAGACT
GAGGCACCAAGTATAGATGAGAAAGTAGATCTTCATTTTATTGCATTAGTTCATGTAGATGGGCATCTCTATGAATTAGATGGGCGGAAG
CCATTTCCAATTAACCATGGTGAAACTAGTGATGAAACTTTATTAGAGGATGCCATAGAAGTTTGCAAGAAGTTTATGGAGCGCGACCCT

>In-frame_KLF12_ENST00000377666_chr13_74518118_-_UCHL3_ENST00000377595_chr13_76134889_+_762nt
ATGAATATCCATATGAAGAGAAAAACAATAAAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGA
GTCAAAACAGAGCTTTTGGAATCTGAACAAGGGTTTCTTAAACAATTAGGTCTACATCCTAACTGGCAATTCGTTGATGTATATGGAATG
GATCCTGAACTCCTTAGCATGGTACCAAGACCAGTCTGTGCAGTCTTACTTCTCTTTCCTATTACAGAAAAGTATGAAGTATTCAGAACA
GAAGAGGAAGAAAAAATAAAATCTCAGGGACAAGATGTTACATCATCAGTATATTTCATGAAGCAAACAATCAGCAATGCCTGTGGAACA
ATTGGACTGATTCATGCTATTGCAAACAATAAAGACAAGATGCACTTTGAATCTGGATCAACCTTGAAAAAATTCCTGGAGGAATCTGTG
TCAATGAGCCCTGAAGAACGAGCCAGATACCTGGAGAACTATGATGCCATCCGAGTTACTCATGAGACCAGTGCCCATGAAGGTCAGACT
GAGGCACCAAGTATAGATGAGAAAGTAGATCTTCATTTTATTGCATTAGTTCATGTAGATGGGCATCTCTATGAATTAGATGGGCGGAAG
CCATTTCCAATTAACCATGGTGAAACTAGTGATGAAACTTTATTAGAGGATGCCATAGAAGTTTGCAAGAAGTTTATGGAGCGCGACCCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_KLF12_ENST00000377669_chr13_74518118_-_UCHL3_ENST00000377595_chr13_76134889_+_910nt
AATGTGACTCTAAGAACAAATGGATGAATGAATATCCATATGAAGAGAAAAACAATAAAGAATATCAACACCTTTGAGAACAGAATGTTA
ATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGTTTCTTAAACAATTAGGTCTACATCCTAAC
TGGCAATTCGTTGATGTATATGGAATGGATCCTGAACTCCTTAGCATGGTACCAAGACCAGTCTGTGCAGTCTTACTTCTCTTTCCTATT
ACAGAAAAGTATGAAGTATTCAGAACAGAAGAGGAAGAAAAAATAAAATCTCAGGGACAAGATGTTACATCATCAGTATATTTCATGAAG
CAAACAATCAGCAATGCCTGTGGAACAATTGGACTGATTCATGCTATTGCAAACAATAAAGACAAGATGCACTTTGAATCTGGATCAACC
TTGAAAAAATTCCTGGAGGAATCTGTGTCAATGAGCCCTGAAGAACGAGCCAGATACCTGGAGAACTATGATGCCATCCGAGTTACTCAT
GAGACCAGTGCCCATGAAGGTCAGACTGAGGCACCAAGTATAGATGAGAAAGTAGATCTTCATTTTATTGCATTAGTTCATGTAGATGGG
CATCTCTATGAATTAGATGGGCGGAAGCCATTTCCAATTAACCATGGTGAAACTAGTGATGAAACTTTATTAGAGGATGCCATAGAAGTT
TGCAAGAAGTTTATGGAGCGCGACCCTGATGAACTAAGATTTAATGCGATTGCTCTTTCTGCAGCATAGCTTGTCAATAATGGAAACACC
AAAAACTGTATTATTTGCAACTAAATTTTCTCTGCCATACACTAACTCAAAAATTTTGATATTTTCATTAACTTGATGATTAAACTTTAT

>In-frame_KLF12_ENST00000377666_chr13_74518118_-_UCHL3_ENST00000377595_chr13_76134889_+_1200nt
GGGGCTTTGTTTCTGGGGAGGAGGACCCGGAGCTCTTTTGTTTGGGGGTTTCTTGTTTTCGGCCCCCCCCCTCACAGCACCCCACCCCAC
CCCACCCCAAGCGCCTCTCCGGTTTCCTGAGCTGCGGGCTGCGAGGGAGGAGAAGCGGCGTCCTGCAACCCCCTCGGCTGGGCCCCGGGG
TAATTCGATGCGGGCCTGGCGAGGCTCCCCACACTAGACCGGGGCTCGCAACTCGGCAGCCTCCACCCACCGGCCCACCCTACATTTAGC
GCATCATGTGATCCGGGATCAATGTGACTCTAAGAACAAATGGATGAATGAATATCCATATGAAGAGAAAAACAATAAAGAATATCAACA
CCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGTTTCTTAAAC
AATTAGGTCTACATCCTAACTGGCAATTCGTTGATGTATATGGAATGGATCCTGAACTCCTTAGCATGGTACCAAGACCAGTCTGTGCAG
TCTTACTTCTCTTTCCTATTACAGAAAAGTATGAAGTATTCAGAACAGAAGAGGAAGAAAAAATAAAATCTCAGGGACAAGATGTTACAT
CATCAGTATATTTCATGAAGCAAACAATCAGCAATGCCTGTGGAACAATTGGACTGATTCATGCTATTGCAAACAATAAAGACAAGATGC
ACTTTGAATCTGGATCAACCTTGAAAAAATTCCTGGAGGAATCTGTGTCAATGAGCCCTGAAGAACGAGCCAGATACCTGGAGAACTATG
ATGCCATCCGAGTTACTCATGAGACCAGTGCCCATGAAGGTCAGACTGAGGCACCAAGTATAGATGAGAAAGTAGATCTTCATTTTATTG
CATTAGTTCATGTAGATGGGCATCTCTATGAATTAGATGGGCGGAAGCCATTTCCAATTAACCATGGTGAAACTAGTGATGAAACTTTAT
TAGAGGATGCCATAGAAGTTTGCAAGAAGTTTATGGAGCGCGACCCTGATGAACTAAGATTTAATGCGATTGCTCTTTCTGCAGCATAGC
TTGTCAATAATGGAAACACCAAAAACTGTATTATTTGCAACTAAATTTTCTCTGCCATACACTAACTCAAAAATTTTGATATTTTCATTA


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FusionGenePPI for KLF12_UCHL3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
KLF12EHMT2, APP, CTBP1, THAP1, DYNLT1, DNMT3L, IDO2, TRIM25UCHL3NEDD8, COPS5, COPS6, USP20, CLPB, SMAD1, HMP19, POGK, UBC, UBE2S, UCHL3, ATXN7L3, PJA1, TRIM63, TRIM55, TRIM54, USP21, USP15, USP28, TSN, ZFYVE19, AHCYL1, UBA6, ZNF593, USP48, USP9X, SSSCA1, USP34, USP5, UBE2V1, UBQLN1, CSE1L, UBE2A, XIAP, UBXN7, UBR1, UNK, ZYX, SNRPD1, UBE2L3, ZRANB2, ATP6V1F, PCMT1, TTC9C, SULT1A1, YAP1, UBE4B, TTC1, VPS33B, PBX1, NT5DC1, UBL7, LONRF1, TRIM27, BAG3, CDH1, PLA2G2A, ZMYM6, ACAA2, ARHGDIA, GDI1, GPX4, HINT1, IMPDH2, MAPRE1, PEBP1, PGD, STIP1, DLD, ENO1, ENO2, EZR, HSD17B10, ISYNA1, MSN, NUP93, P4HB, PPIB, RDX, SMS, SOD2, SUMO3, TAGLN, TAGLN2, TPD52, TPD52L1, UBA1, RAD51, ATM, ZEB1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneUCHL3chr13:74518118chr13:76134889ENST00000377595+19152_15918231ubiquitin
TgeneUCHL3chr13:74518118chr13:76134889ENST00000377595+19219_22418231ubiquitin


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneUCHL3chr13:74518118chr13:76134889ENST00000377595+198_1318231ubiquitin


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for KLF12_UCHL3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for KLF12_UCHL3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKLF12C0036341Schizophrenia1CTD_human
HgeneKLF12C0236969Substance-Related Disorders1CTD_human
TgeneUCHL3C0027627Neoplasm Metastasis1CTD_human